Canonical Allele Identifier: CA2202916427
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3729491C= , CM000678.2:g.3729491C= GRCh38
NC_000016.9:g.3779492C= , CM000678.1:g.3779492C= GRCh37
NC_000016.8:g.3719493C= NCBI36
NG_009873.1:g.155630G=
NG_009873.2:g.156223G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.5556G= MANE Select ENSP00000262367.5:p.Gln1852=
ENST00000262367.9:c.5556G= ENSP00000262367.5:p.Gln1852=
ENST00000382070.7:c.5442G= ENSP00000371502.3:p.Gln1814=
NM_001079846.1:c.5442G= NP_001073315.1:p.Gln1814=
NM_004380.2:c.5556G= NP_004371.2:p.Gln1852=
XM_005255124.3:c.5511G= XP_005255181.1:p.Gln1837=
XM_005255125.3:c.5139G= XP_005255182.1:p.Gln1713=
XM_006720848.2:c.5295G= XP_006720911.1:p.Gln1765=
XM_011522380.1:c.5502G= XP_011520682.1:p.Gln1834=
XM_011522381.1:c.4803G= XP_011520683.1:p.Gln1601=
XM_005255124.4:c.5511G= XP_005255181.1:p.Gln1837=
XM_005255125.4:c.5139G= XP_005255182.1:p.Gln1713=
XM_006720848.3:c.5295G= XP_006720911.1:p.Gln1765=
XM_011522381.2:c.4803G= XP_011520683.1:p.Gln1601=
XM_017022944.1:c.5550G= XP_016878433.1:p.Gln1850=
NM_004380.3:c.5556G= MANE Select NP_004371.2:p.Gln1852=